Varaico: Literature-Extracted Genetic Variants

L3MBTL3

42 papers

RefSeq Summary

This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize meth...

Pfam Domains

MBTaa 268–336UCSCmbt repeat

MBTaa 375–443UCSCmbt repeat

MBTaa 479–546UCSCmbt repeat

SAM_1aa 706–770UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

L3MBTL histone methyl-lysine binding protein 3

HGNC Alias Symbol

KIAA1798

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_032438.4

p.K383N

c.1149G>C

Surrounding Variants

2 papers

NM_032438.4

p.K383N

c.1149G>T

1 paper

NM_032438.4

p.K383E

c.1147A>G

1 paper

NM_032438.4

p.D381A

c.1142A>C

1 paper

NM_032438.4

p.D381H

c.1141G>C

1 paper

NM_032438.4

p.I388N

c.1163T>A

1 paper

NM_032438.4

p.C389C

c.1167T>C

1 paper

NM_032438.4

p.V373G

c.1118T>G

1 paper

NM_032438.4

p.S357L

c.1070C>T

1 paper

NM_032438.4

p.L346L

c.1038T>A

1 paper

NM_032438.4

p.N341S

c.1022A>G

1 paper

NM_032438.4

p.P332Q

c.995C>A

1 paper

NM_032438.4

p.P332L

c.995C>T